First to describe the clinical features associated with an RP2 mutation...

• Abstract
• Introduction
• Methods
• Results
• Discussion
• References
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Biology Articles » Genetics » A New Leu253Arg Mutation in the RP2 Gene in a Japanese Family with X-Linked Retinitis Pigmentosa » References

References

- A New Leu253Arg Mutation in the RP2 Gene in a Japanese Family with X-Linked Retinitis Pigmentosa

References  
Fishman, GA, Farber, MD, Derlacki, DJ (1988) X-linked retinitis pigmentosa: profile of clinical findings Arch Ophthalmol 106,369-375 Bhattacharya, SS, Wright, AF, Clayton, JF, et al (1984) Close genetic linkage between X-linked retinitis pigmentosa and restriction fragment length polymorphism identified by recombinant DNA probe L1. 20 Nature 309,253-255 Musarella, MA, Burghes, A, Anson–Cartwright, L, et al (1988) Localization of the gene for X-linked recessive type of retinitis pigmentosa (XlRP) to Xp21 by linkage analysis Am J Hum Genet 43,263-266 Meindl, A, Dry, K, Hermann, K, et al (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3) Nat Genet 13,36-42 Schwahn, U, Lenzner, S, Dong, J, et al (1998) Positional cloning of the gene for X-linked retinitis pigmentosa2 Nat Genet 19,327-332 Mears, AJ, Gieser, L, Yan, D, et al (1999) Protein-truncation mutations in the RP2 gene in a North America cohort of families with X-linked retinitis pigmentosa Am J Hum Genet 64,897-900 Nakazawa, M, Kikawa, E, Chida, Y, et al (1993) Nonradioactive single strand conformation polymorphism (PCR-SSCP): a simplified method applied to molecular genetic screening of retinitis pigmentosa Hollyfield, JG LaVail, MM Anderson, RE eds. Retinal Degeneration: Clinical and Laboratory Applications ,181-188 Plenum New York, NY. Nakazawa, M, Kikawa–Araki, E, Shiono, T, Tamai, M. (1991) Analysis of rhodopsin gene in patients with retinitis pigmentosa using allele-specific polymerase chain reaction Jpn J Ophthalmol 35,386-393 Marmor, MF, Arden, GB, Nilson, SEG, Zrenner, E. (1989) Standard for clinical electroretinography Arch Ophthalmol 107,816-819 Fishman, GA, Grover, S, Buraczynka, M, et al (1998) A new base-pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa Arch Ophthalmol 116,213-218 Andreasson, S, Ponjavic, V, Abrahamson, M, et al (1997) Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene Am J Ophthalmol 124,95-102 Fujita, R, Byraczynska, M, Gieser, L, et al (1997) Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families Am J Hum Genet 61,571-580